Linkage Disequilibrium and Linkage Analysis of the Glucose-6-Phosphatase Gene
Resource
HUMAN GENETICS v.103 n.2 pp.199-203
Journal
HUMAN GENETICS
Journal Volume
v.103
Journal Issue
n.2
Pages
199-203
Date Issued
1998
Date
1998
Author(s)
HWU, WUH-LIANG
Abstract
Recent studies have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6 -phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified. Thus, informative polymorphic markers are necessary for linkage analysis in carrier testing and prenatal diagnosis in families where mutations can not be identified. The common mutations appear to be ethnic-specific, suggesting that the individual mutations may have a common founder. With the recent discovery of the nucleotide 1176 polymorphism, we have studied whether these mutations are in linkage disequilibrium with the polymorphism. The results of polymerase chain reaction/ allele-specific oligonucleotide analysis show that nucleotide 1176 C is in linkage disequilibrium with mutations R83 C and R83H, and with the splicing mutation 727 G --> T. The 1176 T polymorphism is in linkage disequilibrium with 459insTA. A GT repeat polymorphism has also been found. However, its heterozygosity is low. The 1176 nucleotide polymorphic marker can be used in carrier and prenatal diagnosis of GSD la families that have unidentified mutations and are informative for this marker.
Type
journal article